User profiles for J. B. Leader

Joseph B. Leader

Tempus
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Cited by 31428

Patient-centered precision health in a learning health care system: Geisinger's genomic medicine experience

…, FD Davis, WA Faucett, MLG Hallquist, JB Leader… - Health …, 2018 - healthaffairs.org
… With this goal in mind, senior leadership began to discuss the concept of a genomics core
in the early 2000s 9 and led to the launch of the MyCode® biorepository in 2007. From its …

[HTML][HTML] Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease

…, S Bruse, HM Dansky, JB Leader… - … England Journal of …, 2017 - Mass Medical Soc
Background Loss-of-function variants in the angiopoietin-like 3 gene (ANGPTL3) have been
associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) …

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

…, MF Murray, JD Overton, L Habegger, JB Leader… - Science, 2016 - science.org
INTRODUCTION Large-scale genetic studies of integrated health care populations, with
phenotypic data captured natively in the documentation of clinical care, have the potential to …

[HTML][HTML] Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

…, D Buckler, KMV Lai, JB Leader… - … England Journal of …, 2016 - Mass Medical Soc
Background Higher-than-normal levels of circulating triglycerides are a risk factor for ischemic
cardiovascular disease. Activation of lipoprotein lipase, an enzyme that is inhibited by …

[HTML][HTML] Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease

, … Genetics Center RGC Management and Leadership … - Nature …, 2022 - nature.com
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) enters human host cells
via angiotensin-converting enzyme 2 (ACE2) and causes coronavirus disease 2019 (COVID-…

Genetic identification of familial hypercholesterolemia within a single US health care system

…, C Gonzaga-Jauregui, C O'Dushlaine, JB Leader… - Science, 2016 - science.org
INTRODUCTION Familial hypercholesterolemia (FH) is a public health genomics priority but
remains underdiagnosed and undertreated despite widespread cholesterol screening. This …

[HTML][HTML] Exome sequencing and characterization of 49,960 individuals in the UK Biobank

…, WK Chung, I Surakka, CJ Willer, K Hveem, JB Leader… - Nature, 2020 - nature.com
The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic
and genotypic data with streamlined access for researchers around the world 1 . Here …

Prediction of mortality from 12-lead electrocardiogram voltage data using a deep neural network

…, DP VanMaanen, J Stough, DN Hartzel, JB Leader… - Nature medicine, 2020 - nature.com
The electrocardiogram (ECG) is a widely used medical test, consisting of voltage versus
time traces collected from surface recordings over the heart 1 . Here we hypothesized that a …

[HTML][HTML] Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

…, BJ Kim, HA Koistinen, J Kuusisto, JB Leader… - Nature, 2019 - nature.com
Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to
disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with …

Five-year course and outcome of dysthymic disorder: A prospective, naturalistic follow-up study

…, JE Schwartz, S Rose, JB Leader - American Journal of …, 2000 - Am Psychiatric Assoc
OBJECTIVE: There have been few naturalistic follow-up studies of dysthymic disorder. This
study describes the 5-year course and outcome of dysthymic disorder.METHOD: The authors …